LOVD - Variant listings for RB1

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Patient data (#0003244)
Patient ID fam-no_20061482
Phenotype retinoblastoma
Mut. origin germline
Tissue blood
Template DNA
tumor-genotype unknown
family history isolated
Reference Dommering et al. 2014, Germany:Essen
# Reported 1
Published published
Remarks Previously reported in Dommering et al. 2012
Submitter Larissa Novakovic

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
g-position -
cDNA change c.62dup   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Exon 01_ex
RNA change -
Protein p.Ala22Glyfs*9
RBWiki -
expected consequence type frameshift
DB-ID RB1_01963
originated_in germline

1 entry in RB1

Path.
Allele Descending
Ascending
g-position Descending
Ascending
cDNA change Descending
Ascending
Type Descending
Ascending
Exon Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
RBWiki Descending
Ascending
expected consequence type Descending
Ascending
DB-ID Descending
Ascending
originated_in Descending
Ascending
+/? Unknown - c.62dup Duplication 01_ex - p.Ala22Glyfs*9 - frameshift RB1_01963 germline

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